Varaico: Literature-Extracted Genetic Variants

Gene:CHD1L
Variant:p.T431del1
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CHD1L

NM_004284.6:p.T431del1

Associated Papers

Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.

Khan H et al.

Scientific Reports, 2024

39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › HLMS15_het

Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications.

Smith ED et al.

Human Mutation, 2017

28106320 (PubMed )
Supplement: HUMU-38-600-s001.pdf
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